Incidental Mutation 'IGL00229:Arid5b'
ID 2247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arid5b
Ensembl Gene ENSMUSG00000019947
Gene Name AT-rich interaction domain 5B
Synonyms Mrf2alpha, Mrf2beta, Mrf2, 5430435G07Rik, Desrt
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # IGL00229
Quality Score
Status
Chromosome 10
Chromosomal Location 67928350-68114570 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67964805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 289 (S289P)
Ref Sequence ENSEMBL: ENSMUSP00000151227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020106] [ENSMUST00000218532] [ENSMUST00000219238]
AlphaFold Q8BM75
Predicted Effect probably benign
Transcript: ENSMUST00000020106
SMART Domains Protein: ENSMUSP00000020106
Gene: ENSMUSG00000019947

DomainStartEndE-ValueType
ARID 316 407 8.29e-35 SMART
BRIGHT 320 412 4.18e-38 SMART
low complexity region 425 438 N/A INTRINSIC
low complexity region 451 462 N/A INTRINSIC
low complexity region 538 549 N/A INTRINSIC
low complexity region 695 718 N/A INTRINSIC
low complexity region 730 741 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218532
AA Change: S46P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably damaging
Transcript: ENSMUST00000219238
AA Change: S289P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene experience a high level of mortality perinatally or earlier. Growth rates are low and mice remain small throughout live. There are abnormalities in various organ systems as well as the reproductive system. Fertility is reduced. [provided by MGI curators]
Allele List at MGI

All alleles(212) : Targeted, knock-out(2) Gene trapped(210)

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,964,603 (GRCm39) T929A probably damaging Het
Adam6b G A 12: 113,455,013 (GRCm39) R610H probably damaging Het
Adamts12 T A 15: 11,311,685 (GRCm39) M1314K probably benign Het
Alg6 T A 4: 99,641,291 (GRCm39) F152I probably damaging Het
Aopep A G 13: 63,347,314 (GRCm39) probably benign Het
Axin1 T C 17: 26,413,046 (GRCm39) F780L probably damaging Het
C9 C T 15: 6,512,712 (GRCm39) S278L possibly damaging Het
Calr4 A T 4: 109,101,312 (GRCm39) I65F probably damaging Het
Cdh23 A G 10: 60,359,327 (GRCm39) V260A probably benign Het
Ddx25 T C 9: 35,454,891 (GRCm39) probably benign Het
Dppa4 A G 16: 48,111,446 (GRCm39) T92A possibly damaging Het
Ercc5 T C 1: 44,203,058 (GRCm39) Y232H probably damaging Het
Exoc4 A G 6: 33,895,334 (GRCm39) probably null Het
Fam149a A G 8: 45,804,823 (GRCm39) V253A probably damaging Het
Fam209 C T 2: 172,316,102 (GRCm39) T159I probably damaging Het
Gcfc2 A T 6: 81,912,996 (GRCm39) N265I probably damaging Het
Glud1 T C 14: 34,058,087 (GRCm39) V366A probably benign Het
Hdac10 T C 15: 89,012,645 (GRCm39) T3A probably damaging Het
Ifnar1 T C 16: 91,286,670 (GRCm39) S54P probably damaging Het
Itpr2 T C 6: 146,045,683 (GRCm39) Y2561C probably damaging Het
Klhl30 A G 1: 91,281,879 (GRCm39) E160G possibly damaging Het
Kmt2d A T 15: 98,760,214 (GRCm39) S1015T unknown Het
Lactb2 A G 1: 13,730,598 (GRCm39) M26T probably damaging Het
Lactbl1 A T 4: 136,358,362 (GRCm39) D111V probably damaging Het
Lig4 T C 8: 10,022,775 (GRCm39) Y335C probably damaging Het
Lrrc8e T A 8: 4,285,921 (GRCm39) D715E probably benign Het
Med6 A T 12: 81,626,348 (GRCm39) V142D possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mettl13 A G 1: 162,363,434 (GRCm39) V600A possibly damaging Het
Mpdz A T 4: 81,228,461 (GRCm39) C1314* probably null Het
Nbeal2 A G 9: 110,464,937 (GRCm39) V1009A probably damaging Het
Nmur2 A G 11: 55,931,603 (GRCm39) L36P probably damaging Het
Nudt2 T A 4: 41,480,474 (GRCm39) L119Q probably damaging Het
Or5b117 T C 19: 13,431,204 (GRCm39) M226V possibly damaging Het
Osbpl3 C T 6: 50,300,048 (GRCm39) E519K probably damaging Het
Pak6 A T 2: 118,520,326 (GRCm39) T106S possibly damaging Het
Pggt1b T G 18: 46,413,786 (GRCm39) Q34P probably benign Het
Phactr4 T C 4: 132,098,303 (GRCm39) T322A possibly damaging Het
Plekhj1 T C 10: 80,632,436 (GRCm39) probably null Het
Pnpt1 T C 11: 29,104,217 (GRCm39) probably null Het
Pramel32 A G 4: 88,547,290 (GRCm39) I214T probably damaging Het
Prr14l T C 5: 32,988,020 (GRCm39) I492V probably benign Het
Ranbp2 C A 10: 58,313,078 (GRCm39) A1266E probably damaging Het
Riok3 G A 18: 12,270,077 (GRCm39) D140N probably damaging Het
Rsph4a G A 10: 33,790,339 (GRCm39) E643K probably damaging Het
Scara3 T G 14: 66,170,570 (GRCm39) E103A probably benign Het
Sgk3 T C 1: 9,938,609 (GRCm39) V33A probably damaging Het
Slc38a4 A G 15: 96,897,375 (GRCm39) F480S probably damaging Het
Slc44a1 G A 4: 53,543,571 (GRCm39) V372M probably damaging Het
Slc9a2 A G 1: 40,806,897 (GRCm39) Y728C probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Spidr A T 16: 15,713,442 (GRCm39) L847Q probably damaging Het
Sptb A G 12: 76,667,527 (GRCm39) S857P probably benign Het
Syde1 A G 10: 78,421,643 (GRCm39) V636A probably damaging Het
Syna A G 5: 134,588,571 (GRCm39) L126P possibly damaging Het
Taar2 A G 10: 23,817,266 (GRCm39) T269A possibly damaging Het
Tapbp C T 17: 34,144,678 (GRCm39) T258I probably damaging Het
Tcf20 T A 15: 82,741,343 (GRCm39) Q36L possibly damaging Het
Tmem131l A T 3: 83,849,807 (GRCm39) M260K probably damaging Het
Tnc T A 4: 63,935,061 (GRCm39) probably benign Het
Ugp2 T A 11: 21,304,345 (GRCm39) E27D probably benign Het
Vps35l T A 7: 118,403,414 (GRCm39) probably benign Het
Wdr27 A T 17: 15,148,572 (GRCm39) C140* probably null Het
Wnt2b T C 3: 104,860,449 (GRCm39) T153A possibly damaging Het
Xirp2 A T 2: 67,343,719 (GRCm39) T1987S probably benign Het
Zfp36l1 C A 12: 80,157,238 (GRCm39) G48C probably damaging Het
Zfp474 A T 18: 52,771,565 (GRCm39) I73F possibly damaging Het
Zfp790 T A 7: 29,527,988 (GRCm39) F224L probably benign Het
Other mutations in Arid5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01731:Arid5b APN 10 67,933,439 (GRCm39) missense probably damaging 1.00
IGL02069:Arid5b APN 10 67,933,229 (GRCm39) missense probably damaging 1.00
IGL02161:Arid5b APN 10 67,932,498 (GRCm39) missense probably benign 0.00
IGL02555:Arid5b APN 10 67,937,734 (GRCm39) missense probably benign 0.01
IGL02873:Arid5b APN 10 67,937,780 (GRCm39) missense probably benign 0.06
IGL03119:Arid5b APN 10 68,079,057 (GRCm39) missense probably damaging 1.00
IGL03271:Arid5b APN 10 67,933,287 (GRCm39) missense possibly damaging 0.73
gobi UTSW 10 67,954,175 (GRCm39) missense possibly damaging 0.92
3-1:Arid5b UTSW 10 67,934,419 (GRCm39) missense probably damaging 1.00
PIT4677001:Arid5b UTSW 10 67,933,841 (GRCm39) missense probably damaging 0.99
R0108:Arid5b UTSW 10 68,114,559 (GRCm39) utr 5 prime probably benign
R0525:Arid5b UTSW 10 67,933,676 (GRCm39) missense possibly damaging 0.90
R0533:Arid5b UTSW 10 68,021,863 (GRCm39) missense probably damaging 1.00
R0646:Arid5b UTSW 10 67,932,807 (GRCm39) missense probably damaging 1.00
R1066:Arid5b UTSW 10 67,934,186 (GRCm39) missense probably benign 0.04
R1487:Arid5b UTSW 10 67,933,044 (GRCm39) nonsense probably null
R1638:Arid5b UTSW 10 68,113,777 (GRCm39) missense possibly damaging 0.48
R1789:Arid5b UTSW 10 68,021,897 (GRCm39) missense probably damaging 0.99
R2031:Arid5b UTSW 10 68,114,518 (GRCm39) critical splice donor site probably null
R2337:Arid5b UTSW 10 67,933,607 (GRCm39) missense possibly damaging 0.63
R2996:Arid5b UTSW 10 67,934,292 (GRCm39) missense probably benign 0.01
R2997:Arid5b UTSW 10 67,934,292 (GRCm39) missense probably benign 0.01
R3547:Arid5b UTSW 10 67,934,292 (GRCm39) missense probably benign 0.01
R4411:Arid5b UTSW 10 67,932,519 (GRCm39) missense probably damaging 1.00
R4860:Arid5b UTSW 10 68,078,925 (GRCm39) missense probably damaging 0.97
R4860:Arid5b UTSW 10 68,078,925 (GRCm39) missense probably damaging 0.97
R5219:Arid5b UTSW 10 68,113,940 (GRCm39) missense probably benign 0.08
R5341:Arid5b UTSW 10 68,113,957 (GRCm39) missense possibly damaging 0.87
R5434:Arid5b UTSW 10 67,932,719 (GRCm39) missense possibly damaging 0.67
R5757:Arid5b UTSW 10 67,937,909 (GRCm39) missense probably damaging 1.00
R6114:Arid5b UTSW 10 67,933,574 (GRCm39) missense possibly damaging 0.89
R6313:Arid5b UTSW 10 67,933,412 (GRCm39) missense possibly damaging 0.95
R6338:Arid5b UTSW 10 67,934,391 (GRCm39) nonsense probably null
R6525:Arid5b UTSW 10 67,933,496 (GRCm39) missense possibly damaging 0.47
R6915:Arid5b UTSW 10 68,022,042 (GRCm39) nonsense probably null
R7013:Arid5b UTSW 10 67,933,649 (GRCm39) missense probably damaging 1.00
R7099:Arid5b UTSW 10 67,934,009 (GRCm39) missense probably damaging 1.00
R7260:Arid5b UTSW 10 67,933,637 (GRCm39) missense probably damaging 1.00
R7324:Arid5b UTSW 10 67,964,752 (GRCm39) missense probably benign 0.44
R7334:Arid5b UTSW 10 68,079,007 (GRCm39) missense possibly damaging 0.61
R7432:Arid5b UTSW 10 67,954,096 (GRCm39) missense probably damaging 1.00
R7453:Arid5b UTSW 10 68,078,994 (GRCm39) missense probably benign 0.01
R7649:Arid5b UTSW 10 67,954,175 (GRCm39) missense possibly damaging 0.92
R7659:Arid5b UTSW 10 67,934,417 (GRCm39) missense probably benign
R7661:Arid5b UTSW 10 67,934,417 (GRCm39) missense probably benign
R7662:Arid5b UTSW 10 67,934,417 (GRCm39) missense probably benign
R7663:Arid5b UTSW 10 67,934,417 (GRCm39) missense probably benign
R7665:Arid5b UTSW 10 67,934,417 (GRCm39) missense probably benign
R7666:Arid5b UTSW 10 67,934,417 (GRCm39) missense probably benign
R7759:Arid5b UTSW 10 67,933,632 (GRCm39) missense probably damaging 1.00
R7779:Arid5b UTSW 10 67,932,606 (GRCm39) missense probably damaging 1.00
R7788:Arid5b UTSW 10 67,934,417 (GRCm39) missense probably benign
R7789:Arid5b UTSW 10 67,934,417 (GRCm39) missense probably benign
R7875:Arid5b UTSW 10 67,964,771 (GRCm39) missense probably benign 0.02
R8079:Arid5b UTSW 10 67,934,186 (GRCm39) missense possibly damaging 0.88
R8096:Arid5b UTSW 10 68,021,982 (GRCm39) missense probably benign 0.00
R8228:Arid5b UTSW 10 68,114,536 (GRCm39) missense possibly damaging 0.95
R8377:Arid5b UTSW 10 67,933,217 (GRCm39) missense probably damaging 0.96
R8757:Arid5b UTSW 10 67,933,640 (GRCm39) missense probably damaging 1.00
R8910:Arid5b UTSW 10 67,934,108 (GRCm39) missense
R8954:Arid5b UTSW 10 67,937,810 (GRCm39) missense possibly damaging 0.88
R9234:Arid5b UTSW 10 67,964,628 (GRCm39) missense possibly damaging 0.82
R9272:Arid5b UTSW 10 67,937,882 (GRCm39) missense probably damaging 0.99
R9430:Arid5b UTSW 10 68,022,087 (GRCm39) critical splice acceptor site probably null
X0066:Arid5b UTSW 10 67,954,132 (GRCm39) missense probably damaging 1.00
Z1177:Arid5b UTSW 10 67,933,058 (GRCm39) missense probably damaging 0.99
Posted On 2011-12-09